Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

BibTeX

@article{allodium:10.1093/brain/awad380,
  title = {Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders},
  author = {Rauan Kaiyrzhanov and Aboulfazl Rad and Sheng-Jia Lin and Aida Bertoli-Avella and Wouter W Kallemeijn and Annie Godwin and Maha S Zaki and Kevin Huang and Tracy Lau and Cassidy Petree and Stephanie Efthymiou and Ehsan Ghayoor Karimiani and Maja Hempel and Elizabeth A Normand and Sabine Rudnik-Schöneborn and Ulrich A Schatz and Marc P Baggelaar and Muhammad Ilyas and Tipu Sultan and Javeria Raza Alvi and Manizha Ganieva and Ben Fowler and Ruxandra Aanicai and Gulsen Akay Tayfun and Abdulaziz Al Saman and Abdulrahman Alswaid and Nafise Amiri and Nilufar Asilova and Vorasuk Shotelersuk and Patra Yeetong and Matloob Azam and Meisam Babaei and Gholamreza Bahrami Monajemi and Pouria Mohammadi and Saeed Samie and Selina Husna Banu and Jorge Pinto Basto and Fanny Kortüm and Mislen Bauer and Peter Bauer and Christian Beetz and Masoud Garshasbi and Awatif Hameed Issa and Wafaa Eyaid and Hind Ahmed and Narges Hashemi and Kazem Hassanpour and Isabella Herman and Sherozjon Ibrohimov and Ban A Abdul-Majeed and Maria Imdad and Maksudjon Isrofilov and Qassem Kaiyal and Suliman Khan and Brian Kirmse and Janet Koster and Charles Marques Lourenço and Tadahiro Mitani and Oana Moldovan and David Murphy and Maryam Najafi and Davut Pehlivan and Maria Eugenia Rocha and Vincenzo Salpietro and Miriam Schmidts and Adel Shalata and Mohammad Mahroum and Jawabreh Kassem Talbeya and Robert W Taylor and Dayana Vazquez and Annalisa Vetro and Hans R Waterham and Mashaya Zaman and Tina A Schrader and Wendy K Chung and Renzo Guerrini and James R Lupski and Joseph Gleeson and Mohnish Suri and Yalda Jamshidi and Kailash P Bhatia and Barbara Vona and Michael Schrader and Mariasavina Severino and Matthew Guille and Edward W Tate and Gaurav K Varshney and Henry Houlden and Reza Maroofian},
  year = {2023},
  journal = {Brain},
  doi = {10.1093/brain/awad380},
  url = {https://doi.org/10.1093/brain/awad380}
}

RIS

TY  - JOUR
TI  - Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
AU  - Rauan Kaiyrzhanov
AU  - Aboulfazl Rad
AU  - Sheng-Jia Lin
AU  - Aida Bertoli-Avella
AU  - Wouter W Kallemeijn
AU  - Annie Godwin
AU  - Maha S Zaki
AU  - Kevin Huang
AU  - Tracy Lau
AU  - Cassidy Petree
AU  - Stephanie Efthymiou
AU  - Ehsan Ghayoor Karimiani
AU  - Maja Hempel
AU  - Elizabeth A Normand
AU  - Sabine Rudnik-Schöneborn
AU  - Ulrich A Schatz
AU  - Marc P Baggelaar
AU  - Muhammad Ilyas
AU  - Tipu Sultan
AU  - Javeria Raza Alvi
AU  - Manizha Ganieva
AU  - Ben Fowler
AU  - Ruxandra Aanicai
AU  - Gulsen Akay Tayfun
AU  - Abdulaziz Al Saman
AU  - Abdulrahman Alswaid
AU  - Nafise Amiri
AU  - Nilufar Asilova
AU  - Vorasuk Shotelersuk
AU  - Patra Yeetong
AU  - Matloob Azam
AU  - Meisam Babaei
AU  - Gholamreza Bahrami Monajemi
AU  - Pouria Mohammadi
AU  - Saeed Samie
AU  - Selina Husna Banu
AU  - Jorge Pinto Basto
AU  - Fanny Kortüm
AU  - Mislen Bauer
AU  - Peter Bauer
AU  - Christian Beetz
AU  - Masoud Garshasbi
AU  - Awatif Hameed Issa
AU  - Wafaa Eyaid
AU  - Hind Ahmed
AU  - Narges Hashemi
AU  - Kazem Hassanpour
AU  - Isabella Herman
AU  - Sherozjon Ibrohimov
AU  - Ban A Abdul-Majeed
AU  - Maria Imdad
AU  - Maksudjon Isrofilov
AU  - Qassem Kaiyal
AU  - Suliman Khan
AU  - Brian Kirmse
AU  - Janet Koster
AU  - Charles Marques Lourenço
AU  - Tadahiro Mitani
AU  - Oana Moldovan
AU  - David Murphy
AU  - Maryam Najafi
AU  - Davut Pehlivan
AU  - Maria Eugenia Rocha
AU  - Vincenzo Salpietro
AU  - Miriam Schmidts
AU  - Adel Shalata
AU  - Mohammad Mahroum
AU  - Jawabreh Kassem Talbeya
AU  - Robert W Taylor
AU  - Dayana Vazquez
AU  - Annalisa Vetro
AU  - Hans R Waterham
AU  - Mashaya Zaman
AU  - Tina A Schrader
AU  - Wendy K Chung
AU  - Renzo Guerrini
AU  - James R Lupski
AU  - Joseph Gleeson
AU  - Mohnish Suri
AU  - Yalda Jamshidi
AU  - Kailash P Bhatia
AU  - Barbara Vona
AU  - Michael Schrader
AU  - Mariasavina Severino
AU  - Matthew Guille
AU  - Edward W Tate
AU  - Gaurav K Varshney
AU  - Henry Houlden
AU  - Reza Maroofian
PY  - 2023
JO  - Brain
DO  - 10.1093/brain/awad380
UR  - https://doi.org/10.1093/brain/awad380
ER  - 

APA

Kaiyrzhanov, R., Rad, A., Lin, S., Bertoli-Avella, A., Kallemeijn, W. W., Godwin, A., Zaki, M. S., Huang, K., Lau, T., Petree, C., Efthymiou, S., Karimiani, E. G., Hempel, M., Normand, E. A., Rudnik-Schöneborn, S., Schatz, U. A., Baggelaar, M. P., Ilyas, M., Sultan, T., Alvi, J. R., Ganieva, M., Fowler, B., Aanicai, R., Tayfun, G. A., Saman, A. A., Alswaid, A., Amiri, N., Asilova, N., Shotelersuk, V., Yeetong, P., Azam, M., Babaei, M., Monajemi, G. B., Mohammadi, P., Samie, S., Banu, S. H., Basto, J. P., Kortüm, F., Bauer, M., Bauer, P., Beetz, C., Garshasbi, M., Issa, A. H., Eyaid, W., Ahmed, H., Hashemi, N., Hassanpour, K., Herman, I., Ibrohimov, S., Abdul-Majeed, B. A., Imdad, M., Isrofilov, M., Kaiyal, Q., Khan, S., Kirmse, B., Koster, J., Lourenço, C. M., Mitani, T., Moldovan, O., Murphy, D., Najafi, M., Pehlivan, D., Rocha, M. E., Salpietro, V., Schmidts, M., Shalata, A., Mahroum, M., Talbeya, J. K., Taylor, R. W., Vazquez, D., Vetro, A., Waterham, H. R., Zaman, M., Schrader, T. A., Chung, W. K., Guerrini, R., Lupski, J. R., Gleeson, J., Suri, M., Jamshidi, Y., Bhatia, K. P., Vona, B., Schrader, M., Severino, M., Guille, M., Tate, E. W., Varshney, G. K., Houlden, H., & Maroofian, R. (2023). Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. https://doi.org/10.1093/brain/awad380